rs587776832
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACTC;ACTC) | 0 | common in clinvar |
(GAGT;GAGT) | 0 | common in clinvar |
(GAGTA;GAGTA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587776832(-;-) |
Make rs587776832(-;ACTC) |
Reference | GRCh38 38.1/142 |
Chromosome | 5 |
Position | 143298666 |
Gene | NR3C1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776832 |
dbSNP (classic) | rs587776832 |
ClinGen | rs587776832 |
ebi | rs587776832 |
HLI | rs587776832 |
Exac | rs587776832 |
Gnomad | rs587776832 |
Varsome | rs587776832 |
LitVar | rs587776832 |
Map | rs587776832 |
PheGenI | rs587776832 |
Biobank | rs587776832 |
1000 genomes | rs587776832 |
hgdp | rs587776832 |
ensembl | rs587776832 |
geneview | rs587776832 |
scholar | rs587776832 |
rs587776832 | |
pharmgkb | rs587776832 |
gwascentral | rs587776832 |
openSNP | rs587776832 |
23andMe | rs587776832 |
SNPshot | rs587776832 |
SNPdbe | rs587776832 |
MSV3d | rs587776832 |
GWAS Ctlg | rs587776832 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587776832(ACTC;ACTC) rs587776832(-;-) |
Alt | Rs587776832(ACTC;ACTC) rs587776832(-;-) |
Reference | Rs587776832(GAGT;GAGT) |
Significance | Pathogenic |
Disease | Glucocorticoid resistance |
Variation | info |
Gene | NR3C1 |
CLNDBN | Glucocorticoid resistance, generalized |
Reversed | 1 |
HGVS | NC_000005.9:g.142678231_142678234delACTC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000017530.32, |